ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)

dbSNP: rs1044449024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206195 SCV001377492 pathogenic Cutis laxa, autosomal recessive, type 1B 2019-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EFEMP2 are known to be pathogenic (PMID: 17937443). This variant has not been reported in the literature in individuals with EFEMP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys287*) in the EFEMP2 gene. It is expected to result in an absent or disrupted protein product.

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